rs781908532, SLC25A1

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
1 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.800 1.000 2 2018 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.700 0
Myasthenias
CUI: C0947912
Disease: Myasthenias
3 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.700 0
Ophthalmoparesis
CUI: C0751401
Disease: Ophthalmoparesis
4 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
20 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020
Myasthenic Syndromes, Congenital
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
40 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020